brachydactyly type B2

A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.

Signs and symptoms

• Proximal finger symphalangism
• Carpal synostosis
• Distal finger symphalangism
• Short 1st metacarpal
• Absent phalangeal crease
• Cutaneous syndactyly of toes
• Cutaneous finger syndactyly
• Aplasia/Hypoplasia of the middle phalanges of the toes
• Aplasia/Hypoplasia of the nails
• Aplasia/Hypoplasia of the distal phalanges of the toes

Also known as: BDB2